ErkrankungGliedergürtel-Muskeldystrophie, autosomal dominant; Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Gliedergürtel-Muskel-dystrophie (dominant) mit 10 bzw. 20 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
GP0041
Anzahl Gene
20
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
28,6 kb (Core-/Basis-Gene)
97,1 kb (Erweitertes Panel)
97,1 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
Genpanel
Ausgewählte Gene
Name | Exon-Länge (bp) | OMIM-G | Erbgang |
---|---|---|---|
CAPN3 | 2466 | AD und/oder AR | |
CAV3 | 456 | AD und/oder Ass | |
COL6A1 | 3087 | AD und/oder AR | |
COL6A2 | 3060 | AD und/oder AR | |
COL6A3 | 9534 | AD und/oder AR | |
DES | 1413 | AD und/oder AR | |
DNAJB6 | 981 | AD | |
HNRNPDL | 1263 | AD | |
LMNA | 1995 | AD und/oder AR und/oder Dig | |
MYOT | 1497 | AD | |
TNPO3 | 2772 | AD | |
BAG3 | 1728 | AD | |
CRYAB | 528 | AD | |
FLNC | 8178 | AD | |
MYH7 | 5808 | AD und/oder AR und/oder Dig | |
ORAI1 | 912 | AD und/oder AR | |
STIM1 | 2058 | AD und/oder AR | |
SYNE1 | 26250 | AD und/oder AR | |
SYNE2 | 20658 | AD | |
VCP | 2421 | AD |
Infos zur Erkrankung
Klinischer Kommentar
Heterogene Gruppe von Muskeldystrophien mit proximaler Schwäche im Becken- + Schultergürtel; bei bestimmten Formen kardiale + respiratorische Beeinträchtigung
Synonyme
- Allelic: Arthrogryposis multiplex congenita 3, myogenic type (SYNE1)
- Allelic: Cardiomyopathy, dilated, 1A (LMNA)
- Allelic: Cardiomyopathy, dilated, 1HH (BAG3)
- Allelic: Cardiomyopathy, dilated, 1I (DES)
- Allelic: Cardiomyopathy, dilated, 1II (CRYAB)
- Allelic: Cardiomyopathy, familial hypertrophic (CAV3)
- Allelic: Cardiomyopathy, familial hypertrophic, 26 (FLNC)
- Allelic: Cardiomyopathy, familial restrictive 5 (FLNC)
- Allelic: Cataract 16, multiple types (CRYAB)
- Allelic: Charcot-Marie-Tooth disease, type 2B1 (LMNA)
- Allelic: Creatine phosphokinase, elevated serum (CAV3)
- Allelic: Dystonia 27 (COL6A3)
- Allelic: Heart-hand syndrome, Slovenian type (LMNA)
- Allelic: Hutchinson-Gilford progeria (LMNA)
- Allelic: Immunodeficiency 10 (STIM1)
- Allelic: Immunodeficiency 9 (ORAI1)
- Allelic: King-Denborough syndrome (RYR1)
- Allelic: Lipodystrophy, familial partial, type 2 (LMNA)
- Allelic: Malignant hyperthermia susceptibility 1 (RYR1)
- Allelic: Malouf syndrome (LMNA)
- Allelic: Mandibuloacral dysplasia (LMNA)
- Allelic: Minicore myopathy with external ophthalmoplegia (RYR1)
- Allelic: Muscular dystrophy, congenital (LMNA)
- Allelic: Myopathy, distal, 4 (FLNC)
- Allelic: Myopathy, distal, Tateyama type (CAV3)
- Allelic: Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related (CRYAB)
- Allelic: Myosclerosis, congenital (COL6A2)
- Allelic: Restrictive dermopathy, lethal (LMNA)
- Allelic: Scapuloperoneal syndrome, neurogenic, Kaeser type (DES)
- Allelic: Spinocerebellar ataxia, AR 8 (SYNE1)
- Allelic: Stormorken syndrome (STIM1)
- Bethlem myopathy 1 (COL6A1, COL6A2, COL6A3)
- Central core disease (RYR1)
- Emery-Dreifuss muscular dystrophy 2, AD (LMNA)
- Emery-Dreifuss muscular dystrophy 3, AR (LMNA)
- Emery-Dreifuss muscular dystrophy 4, AD (SYNE1)
- Emery-Dreifuss muscular dystrophy 5, AD (SYNE2)
- Inclusion body myopathy with early-onset Paget disease + frontotemporal dementia 1 (VCP)
- Limb-Girdle Muscular Dystrophy [panelapp] (LMNA)
- Limb-girdle muscular dystrophy, LGMD1R (LMNA)
- Muscular dystrophy, limb-girdle, AD 3 (HNRNPDL)
- Muscular dystrophy, limb-girdle, autosomal dominant 2 (TNPO3)
- Muscular dystrophy, limb-girdle, type 1A (MYOT)
- Muscular dystrophy, limb-girdle, type 1C (CAV3)
- Muscular dystrophy, limb-girdle, type 1E (DNAJB6)
- Muscular dystrophy, limb-girdle, type 1G (HNRNPDL)
- Muscular dystrophy, limb-girdle, type 2A (CAPN3)
- Muscular dystrophy, limb-girdle, type 2R (DES)
- Muscular dystrophy-dystroglycanopathy, cong. with impaired intell. development, type B, 15 (DPM3)
- Muscular dystrophy-dystroglycanopathy, limb-girdle, type C, 15 (DPM3)
- Myopathy, myofibrillar, 1 (DES)
- Myopathy, myofibrillar, 2 (CRYAB)
- Myopathy, myofibrillar, 5 (FLNC)
- Myopathy, myofibrillar, 6 (BAG3)
- Myopathy, tubular aggregate, 1 (STIM1)
- Myopathy, tubular aggregate, 2 (ORAI1)
- Myopathy, vacuolar, with CASQ1 aggregates (CASQ1)
- Neuromuscular disease, congenital, with uniform type 1 fiber (RYR1)
- Rippling muscle disease (CAV3)
- Ullrich congenital muscular dystrophy 1 (COL6A1, COL6A2, COL6A3)
Erbgänge, Vererbungsmuster etc.
- AD
- AD und/oder AR
- AD und/oder AR und/oder Dig
- AD und/oder Ass
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
G71.0
Bioinformatik und klinische Interpretation
Kein Text hinterlegt